Varaico: Literature-Extracted Genetic Variants

UXS1

43 papers

RefSeq Summary

This gene encodes an enzyme found in the perinuclear Golgi which catalyzes the synthesis of UDP-xylose used in glycosaminoglycan (GAG) synthesis on proteoglycans. The GAG chains are covalently attache...

Pfam Domains

UXS1_Naa 4–78UCSCUDP-glucuronate decarboxylase N-terminal

GDP_Man_Dehydaa 92–387UCSCGDP-mannose 4,6 dehydratase

Gene Aliases

HGNC Name

UDP-glucuronate decarboxylase 1

HGNC Alias Symbols

FLJ23591; UGD; SDR6E1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001253875.2

p.V10G

c.29T>G

Surrounding Variants

1 paper

NM_001253875.2

p.R8S

c.22C>A

1 paper

NM_001253875.2

p.L7L

c.21G>A

1 paper

NM_001253875.2

p.S32Splc

c.94+644G>A